Linked Data
ClinVar Variation Id:
7961
dbSNP Id:
rs121909194
PubMed:
PMID:17499207
ERepo:
CA119186/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636302C>G , CM000663.2:g.171636302C>G | GRCh38 |
| NC_000001.10:g.171605442C>G , CM000663.1:g.171605442C>G | GRCh37 |
| NC_000001.9:g.169872065C>G | NCBI36 |
| NG_008859.1:g.21332G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1138G>C (MYOC) MANE Select | ENSP00000037502.5:p.Asp380His | |
| ENST00000637303.1:c.235-2328C>G (MYOCOS) | ENSP00000490048.1:n.235-2328C>G | |
| ENST00000638471.1:c.*476G>C (MYOC) | ENSP00000491206.1:n.*476G>C | |
| ENST00000037502.10:c.1138G>C (MYOC) | ENSP00000037502.5:p.Asp380His | |
| ENST00000614688.1:c.*102G>C (MYOC) | ENSP00000478680.1:n.*102G>C | |
| NM_000261.1:c.1138G>C (MYOC) | NP_000252.1:p.Asp380His | |
| NM_000261.2:c.1138G>C (MYOC) MANE Select | NP_000252.1:p.Asp380His |